Gene Gene information from NCBI Gene database.
Entrez ID 79915
Gene name ATPase family AAA domain containing 5
Gene symbol ATAD5
Synonyms (NCBI Gene)
C17orf41ELG1FRAG1
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
1064
miRTarBase ID miRNA Experiments Reference
MIRT024838 hsa-miR-215-5p Microarray 19074876
MIRT026701 hsa-miR-192-5p Microarray 19074876
MIRT031852 hsa-miR-16-5p Sequencing 20371350
MIRT038807 hsa-miR-93-3p CLASH 23622248
MIRT484008 hsa-miR-32-3p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003677 Function DNA binding IBA
GO:0005515 Function Protein binding IPI 21555454, 23277426
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609534 25752 ENSG00000176208
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96QE3
Protein name ATPase family AAA domain-containing protein 5 (Chromosome fragility-associated gene 1 protein)
Protein function Has an important role in DNA replication and in maintaining genome integrity during replication stress (PubMed:15983387, PubMed:19755857). Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA dama
PDB 8UI7 , 8UI8 , 8UI9 , 8UII
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 1128 1215 ATPase family associated with various cellular activities (AAA) Domain
Sequence
MVGVLAMAAAAAPPPVKDCEIEPCKKRKKDDDTSTCKTITKYLSPLGKTRDRVFAPPKPS
NILDYFRKTSPTNEKTQLGKECKIKSPESVPVDSNKDCTTPLEMFSNVEFKKKRKRVNLS
HQLNNIKTENEAPIEISSDDSKEDYSLNNDFVESSTSVLRYKKQVEVLAENIQDTKSQPN
TMTSLQNSKKVNPKQGTTKNDFKKLRKRKCRDVVDLSESLPLAEELNLLKKDGKDTKQME
NTTSHANSRDNVTEAAQLNDSIITVSYEEFLKSHKENKVEEIPDSTMSICVPSETVDEIV
KSGYISESENSEISQQVRFKTVTVLAQVHPIPPKKTGKIPRIFLKQKQFEMENSLSDPEN
EQTVQKRKSNVVIQEEELELAVLEAGSSEAVKPKCTLEERQQFMKAFRQPASDALKNGVK
KSSDKQKDLNEKCLYEVGRDDNSKKIMENSGIQMVSKNGNLQLHTDKGSFLKEKNKKLKK
KNKKTLDTGAIPGKNREGNTQKKETTFFLKEKQYQNRMSLRQRKTEFFKSSTLFNNESLV
YEDIANDDLLKVSSLCNNNKLSRKTSIPVKDIKLTQSKAESEASLLNVSTPKSTRRSGRI
SSTPTTETIRGIDSDDVQDNSQLKASTQKAANLSEKHSLYTAELITVPFDSESPIRMKFT
RISTPKKSKKKSNKRSEKSEATDGGFTSQIRKASNTSKNISKAKQLIEKAKALHISRSKV
TEEIAIPLRRSSRHQTLPERKKLSETEDSVIIIDSSPTALKHPEKNQKKLQCLNDVLGKK
LNTSTKNVPGKMKVAPLFLVRKAQKAADPVPSFDESSQDTSEKSQDCDVQCKAKRDFLMS
GLPDLLKRQIAKKAAALDVYNAVSTSFQRVVHVQQKDDGCCLWHLKPPSCPLLTKFKELN
TKVIDLSKCGIALGEFSTLNSKLKSGNSAAVFMRTRKEFTEEVRNLLLEEIRWSNPEFSL
KKYFPLLLKKQIEHQVLSSECHSKQELEADVSHKETKRKLVEAENSKSKRKKPNEYSKNL
EKTNRKSEELSKRNNSSGIKLDSSKDSGTEDMLWTEKYQPQTASELIGNELAIKKLHSWL
KDWKRRAELEERQNLKGKRDEKHEDFSGGIDFKGSSDDEEESRLCNTVLITGPTGVGKTA
AVYACAQELGFKIFEVNASSQRSGRQILSQLKEATQSHQVDKQGVNSQKPCFFNSYYIGK
SPKKISSPKKVVTSP
RKVPPPSPKSSGPKRALPPKTLANYFKVSPKPKNNEEIGMLLENN
KGIKNSFEQKQITQTKSTNATNSNVKDVGAEEPSRKNATSLILFEEVDVIFDEDAGFLNA
IKTFMATTKRPVILTTSDPTFSLMFDGCFEEIKFSTPSLLNVASYLQMICLTENFRTDVK
DFVTLLTANTCDIRKSILYLQFWIRSGGGVLEERPLTLYRGNSRNVQLVCSEHGLDNKIY
PKNTKKKRVDLPKCDSGCAETLFGLKNIFSPSEDLFSFLKHKITMKEEWHKFIQLLTEFQ
MRNVDFLYSNLEFILPLPVDTIPETKNFCGPSVTVDASAATKSMNCLARKHSEREQPLKK
SQKKKQKKTLVILDDSDLFDTDLDFPDQSISLSSVSSSSNAEESKTGDEESKARDKGNNP
ETKKSIPCPPKTTAGKKCSALVSHCLNSLSEFMDNMSFLDALLTDVREQNKYGRNDFSWT
NGKVTSGLCDEFSLESNDGWTSQSSGELKAAAEALSFTKCSSAISKALETLNSCKKLGRD
PTNDLTFYVSQKRNNVYFSQSAANLDNAWKRISVIKSVFSSRSLLYVGNRQASIIEYLPT
LRNICKTEKLKEQGKSKRRFLHYFEGIHLDIPKETVNTLAADFP
Sequence length 1844
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
49
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign; Benign rs183947191, rs114345202, rs76207516 RCV005933209
RCV005938721
RCV005910191
ATAD5-related disorder Benign; Likely benign; Uncertain significance rs3816780, rs999796, rs17826219, rs529546366, rs377281173, rs3764421, rs9896095, rs751667550, rs61745366, rs147909444, rs183947191, rs193221883, rs140139079, rs187696580, rs186417181
View all (21 more)
RCV003974626
RCV003979704
RCV003979863
RCV003912106
RCV003912139
RCV003977416
RCV003984520
RCV003909652
RCV003914089
RCV003924632
RCV003939833
RCV003962142
RCV003919532
RCV003927163
RCV003929512
RCV003951849
RCV003914341
RCV003914554
RCV003924442
RCV003944443
RCV003914728
RCV003932145
RCV003932274
RCV003932281
RCV003981861
RCV003981962
RCV003982103
RCV003982204
RCV003954878
RCV003976293
RCV003918413
RCV003905978
RCV003950440
RCV003910467
RCV003940831
RCV003978184
RCV003915992
Gastric cancer Benign rs114345202 RCV005938723
Hepatocellular carcinoma Uncertain significance rs201684026 RCV005926953
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 26722215
DNA Virus Infections Associate 22431602
Fanconi Anemia Associate 23624835
Neoplasms Associate 32542338
Neurofibroma Plexiform Stimulate 20844836
Neurofibrosarcoma Stimulate 20844836